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+ Genes 391

Genes:
ABCA1, ABCA2, ABL1, ACO1, ACTL7B, ADAMTS13, ADAMTSL1, ADAMTSL2, AGTPBP1, AIF1L, AK1, ALAD, ALDH1B1, ANAPC2, ANKRD18A, ANKRD18B, ANKS6, AQP3, AQP7, ARHGEF39, ARID3C, ASB6, ASPN, ASTN2, AUH, BAAT, BAG1, BARX1, BNC2, BRINP1, BSPRY, C5, C8G, C9orf114, C9orf117, C9orf129, C9orf131, C9orf135, C9orf147, C9orf152, C9orf156, C9orf163, C9orf169, C9orf170, C9orf171, C9orf173, C9orf24, C9orf3, C9orf38, C9orf40, C9orf43, C9orf57, C9orf62, C9orf66, C9orf69, C9orf78, C9orf84, C9orf89, C9orf9, C9orf96, CA9, CAAP1, CACFD1, CACNA1B, CARD9, CBWD1, CCDC107, CCDC171, CCDC180, CCDC183, CDK20, CDK5RAP2, CEL, CEP78, CERCAM, CIZ1, CNTLN, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRAT, CRB2, CTNNAL1, CTSL, DAPK1, DBH, DCAF12, DDX31, DDX58, DEC1, DENND1A, DENND4C, DFNB31, DMRT2, DNAI1, DNAJA1, DNAJC25, DOCK8, DOLPP1, DPM2, DPP7, ECM2, EHMT1, ENDOG, ENTPD2, ENTPD8, EPB41L4B, EQTN, ERCC6L2, ERMP1, EXD3, EXOSC3, FAM102A, FAM120A, FAM120AOS, FAM154A, FAM166A, FAM166B, FAM189A2, FAM205A, FAM214B, FAM221B, FAM69B, FAM78A, FBP1, FBP2, FBXO10, FCN1, FCN2, FGD3, FKBP15, FNBP1, FOCAD, FOXE1, FPGS, FREM1, FRMD3, FXN, GABBR2, GAPVD1, GBGT1, GCNT1, GDA, GLDC, GLE1, GLIS3, GLT6D1, GOLGA1, GPR107, GPR144, GPSM1, GRHPR, GRIN1, GRIN3A, GTF3C4, GTF3C5, HABP4, HAUS6, HDHD3, HMCN2, HRCT1, IARS, IER5L, IFNK, IFT74, IKBKAP, IL33, INPP5E, INVS, IZUMO3, KANK1, KCNT1, KCNV2, KDM4C, KIAA0020, KIAA0368, KIAA1161, KIAA1432, KIAA1958, KIAA2026, KIF12, KIF24, LAMC3, LCN12, LCN15, LMX1B, LPPR1, LRRC19, LRRC26, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MEGF9, MELK, MLLT3, MPDZ, MSANTD3, MUSK, MVB12B, NACC2, NAIF1, NANS, NCS1, NDOR1, NDUFA8, NEK6, NELFB, NFX1, NIPSNAP3A, NIPSNAP3B, NOL6, NOTCH1, NOXA1, NPDC1, NPR2, NTNG2, NUP188, NUP214, NUTM2F, OBP2B, ODF2, OLFM1, OLFML2A, OR13C2, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR13J1, OR1B1, OR1J2, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, ORM1, OSTF1, PALM2-AKAP2, PAPPA, PAX5, PCSK5, PDCD1LG2, PHF19, PHF2, PHYHD1, PIP5KL1, PLIN2, PMPCA, PNPLA7, POLR1E, POMT1, PPAPDC3, PPP1R26, PPP6C, PRKACG, PRPF4, PRRC2B, PRSS3, PRUNE2, PSIP1, PSMB7, PSMD5, PTCH1, PTGDS, PTGES2, PTGR1, PTGS1, PTPN3, PTPRD, QSOX2, RABEPK, RABL6, RAD23B, RALGDS, RALGPS1, RASEF, RC3H2, RECK, REXO4, RGS3, RLN1, RMI1, RNF183, RNF20, ROR2, RORB, RP11-145E5.5, RP11-295D22.1, RUSC2, SARDH, SDCCAG3, SEC16A, SEMA4D, SETX, SH2D3C, SH3GLB2, SHB, SLC24A2, SLC25A25, SLC28A3, SLC31A1, SLC31A2, SLC34A3, SMC5, SNAPC3, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31D1, SPATA31E1, SPINK4, SPTAN1, STRBP, STX17, SURF1, SURF2, SVEP1, SYK, TAF1L, TBC1D13, TBC1D2, TDRD7, TEK, TESK1, TJP2, TLE1, TLE4, TLN1, TMC1, TMEFF1, TMEM215, TMEM245, TMEM261, TMEM8C, TNC, TNFSF15, TOPORS, TOR1A, TOR1B, TOR2A, TPD52L3, TPM2, TRBV20OR9-2, TRPM3, TRPM6, TSC1, TSTD2, TTC16, TTC39B, TTF1, TTLL11, TUSC1, TYRP1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, UGCG, USP20, VAV2, VLDLR, VPS13A, WDR31, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZDHHC12, ZER1, ZFAND5, ZFP37, ZNF169, ZNF189, ZNF462, ZNF618, ZNF782,

+ Genes associated with diseases 89

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AGTPBP1, AK1, ALAD, ANKS6, AQP3, AQP7, ASPN, AUH, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CEL, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DNAI1, DOCK8, DPM2, EHMT1, ERCC6L2, EXOSC3, FBP1, FOXE1, FREM1, FXN, GABBR2, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IARS, IFT74, IKBKAP, INPP5E, INVS, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NANS, NOTCH1, NPR2, NUP214, PAX5, PMPCA, POMT1, PRKACG, PRPF4, PTCH1, ROR2, RORB, RUSC2, SARDH, SETX, SLC34A3, SOHLH1, SPTAN1, SURF1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TPM2, TRPM6, TSC1, TYRP1, VLDLR, VPS13A, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ABL1 Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AGTPBP1 Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ANKS6 Nephronophthisis 16, 615382 (3)
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
AUH 3-methylglutaconic aciduria, type I, 250950 (3)
BAAT Hypercholanemia, familial, 607748 (3)
C5 C5 deficiency, 609536 (3)
[Eculizumab, poor response to], 615749 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
CEP78 Cone-rod dystrophy and hearing loss, 617236 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DDX58 Singleton-Merten syndrome 2, 616298 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GABBR2 {Nicotine dependence, protection against}, 188890 (3)
{Nicotine dependence, susceptibility to}, 188890 (3)
Epileptic encephalopathy, early infantile, 59, 617904 (3)
Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLE1 Congenital arthrogryposis with anterior horn cell disease, 611890 (3)
Lethal congenital contracture syndrome 1, 253310 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MUSK Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
NANS Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NUP214 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PRKACG ?Bleeding disorder, platelet-type, 19, 616176 (3)
PRPF4 Retinitis pigmentosa 70, 615922 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RORB {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (3)
RUSC2 Mental retardation, autosomal recessive 61, 617773 (3)
SARDH [Sarcosinemia], 268900 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SOHLH1 Ovarian dysgenesis 5, 617690 (3)
Spermatogenic failure 32, 618115 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
TDRD7 Cataract 36, 613887 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TMC1 Deafness, autosomal dominant 36, 606705 (3)
Deafness, autosomal recessive 7, 600974 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TOPORS Retinitis pigmentosa 31, 609923 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
TYRP1 Albinism, oculocutaneous, type III, 203290 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
VPS13A Choreoacanthocytosis, 200150 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AK1, ALAD, ANKS6, AQP3, AUH, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CEL, CIZ1, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DOCK8, DPM2, EHMT1, ERCC6L2, EXOSC3, FBP1, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IKBKAP, INPP5E, INVS, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, PAX5, PMPCA, POMT1, PRKACG, PRPF4, PTCH1, ROR2, SETX, SLC34A3, SPTAN1, SURF1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TOR1A, TPM2, TRPM6, TSC1, TYRP1, VLDLR, VPS13A, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ALAD Porphyria, acute hepatic
ANKS6 Nephronophthisis 16
AQP3 Blood group, GIL
AUH 3-methylglutaconic aciduria, type I
BAAT Hypercholanemia, familial
C5 Eculizumab, poor response to
Complement component 5 deficiency
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
CEL Maturity-onset diabetes of the young, type 8
CIZ1 Primary cervical dystonia, adult-onset
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COQ4 Coenzyme Q10 deficiency 7
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
DBH Dopamine beta-hydroxylase deficiency
DDX58 Singleton-Merten syndrome 2
DNAI1 Ciliary dyskinesia, primary, 1
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
EHMT1 Kleefstra syndrome
ERCC6L2 Bone marrow failure syndrome 2
EXOSC3 Pontocerebellar hypoplasia type 1B
FBP1 Fructose-1,6-bisphosphatase deficiency
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FXN Friedreich ataxia
GLDC Glycine encephalopathy
GLE1 Arthrogryposis, lethal, with anterior horn cell disease
Lethal congenital contracture syndrome 1
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GRHPR Hyperoxaluria, primary, type II
GRIN1 Mental retardation, autosomal dominant 8
IKBKAP Dysautonomia, familial
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
INVS Nephronophthisis 2
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
KCNV2 Retinal cone dystrophy 3B
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
PAX5 Pre-B cell acute lymphoblastic leukemia
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PRKACG Bleeding disorder, platelet-type, 19
PRPF4 Retinitis pigmentosa 70
PTCH1 Basal cell nevus syndrome
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SPTAN1 Epileptic encephalopathy, early infantile, 5
SURF1 Charcot-Marie-Tooth disease type 4K
Leigh syndrome
TDRD7 Cataract, autosomal recessive congenital 4
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TMC1 Deafness, autosomal recessive 7
TNC Deafness, autosomal dominant 56
TOPORS Retitinis pigmentosa 31
TOR1A Dystonia 1, torsion
TPM2 Nemaline myopathy 4
CAP myopathy
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 2B
TRPM6 Hypomagnesemia 1, intestinal
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
TYRP1 Albinism, oculocutaneous, type III
VLDLR Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
VPS13A Choreoacanthocytosis
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 1886
Number of Genes: 391

Export to: CSV

ABCA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs2230806
dbSNP Clinvar 		107620867 1420.77 C T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43970 0.43970 0.39151 0.66 0.00 None None None None None None ABCA1|0.668333708|9.43%
View 94231510241520_annotated 9 rs2230805
dbSNP Clinvar 		107624029 505.77 C T PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.37240 0.37240 0.32224 None None None None None None ABCA1|0.668333708|9.43%
View 94231510241520_annotated 9 rs2066714
dbSNP Clinvar 		107586753 731.77 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35683 0.35680 0.24596 0.28 0.00 None None None None None None ABCA1|0.668333708|9.43%
View 94231510241520_annotated 9 rs2230808
dbSNP Clinvar 		107562804 4490.77 T C PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53834 0.53830 0.41496 0.61 0.03 None None None None None None ABCA1|0.668333708|9.43%
View 94231510241520_annotated 9 rs2853579
dbSNP Clinvar 		107591272 2074.77 G T PASS 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.33906 0.33910 0.22413 None None None None None None ABCA1|0.668333708|9.43%

ABCA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs7048567
dbSNP Clinvar 		139904037 4926.77 A G PASS 1/1 168 SYNONYMOUS_CODING LOW SILENT 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%
View 94231510241520_annotated 9 rs908832
dbSNP Clinvar 		139912484 4569.77 A G PASS 1/1 153 SYNONYMOUS_CODING LOW SILENT 0.96386 0.96390 0.03809 None None None None None None ABCA2|0.074227496|56.47%
View 94231510241520_annotated 9 rs908828
dbSNP Clinvar 		139913239 4283.77 T G PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None ABCA2|0.074227496|56.47%
View 94231510241520_annotated 9 rs4880189
dbSNP Clinvar 		139923265 1303.77 A G PASS 1/1 41 None None None 0.76657 0.76660 0.22882 None None None None None None ABCA2|0.074227496|56.47%,C9orf139|0.000737675|97.09%
View 94231510241520_annotated 9 rs2271862
dbSNP Clinvar 		139906359 8952.77 G A PASS 1/1 294 SYNONYMOUS_CODING LOW SILENT 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%

ABL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs34717358
dbSNP Clinvar 		133759546 1454.77 G A PASS 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.02316 0.02316 0.02899 None None None None None None ABL1|0.915754224|3.1%

ACO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs3780473
dbSNP Clinvar 		32425910 10970.77 A G PASS 1/1 357 SYNONYMOUS_CODING LOW SILENT 0.35383 0.35380 0.32693 None None None None None None ACO1|0.412115925|20.03%

ACTL7B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs3750468
dbSNP Clinvar 		111618163 579.77 G A PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.22644 0.22640 0.21036 None None None None None None ACTL7B|0.043315867|64.73%
View 94231510241520_annotated 9 rs11543179
dbSNP Clinvar 		111617650 2408.77 G A PASS 0/1 230 SYNONYMOUS_CODING LOW SILENT 0.22764 0.22760 0.21492 None None None None None None ACTL7B|0.043315867|64.73%

ADAMTS13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs34024143
dbSNP Clinvar 		136287582 647.77 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05272 0.05272 0.09988 0.06 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View 94231510241520_annotated 9 rs28503257
dbSNP Clinvar 		136319589 1697.77 G A PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01558 0.01558 0.02968 0.03 0.97 None None None None None None ADAMTS13|0.009367264|81.4%
View 94231510241520_annotated 9 rs3124767
dbSNP Clinvar 		136308542 354.77 C T PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.49681 0.49680 0.38725 None None None None None None ADAMTS13|0.009367264|81.4%
View 94231510241520_annotated 9 rs36219561
dbSNP Clinvar 		136294889 429.77 T C PASS 0/1 44 None None None 0.02296 0.02296 None None None None None None ADAMTS13|0.009367264|81.4%
View 94231510241520_annotated 9 rs3124768
dbSNP Clinvar 		136304497 2036.77 A G PASS 0/1 169 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%
View 94231510241520_annotated 9 rs28641026
dbSNP Clinvar 		136314952 902.77 C T PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.01577 0.01577 0.02999 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs1549986
dbSNP Clinvar 		18776840 2916.77 A C PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.97205 0.97200 0.06223 None None None None None None ADAMTSL1|0.674544897|9.24%
View 94231510241520_annotated 9 rs35525189,rs796576662
dbSNP Clinvar 		18826261 1931.73 GT G PASS 1/1 81 None None None None None None None None None ADAMTSL1|0.674544897|9.24%
View 94231510241520_annotated 9 rs2277160
dbSNP Clinvar 		18504916 1913.77 T A PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.57089 0.57090 0.40643 None None None None None None ADAMTSL1|0.674544897|9.24%
View 94231510241520_annotated 9 rs13293151
dbSNP Clinvar 		18681821 3441.77 A G PASS 1/1 116 SYNONYMOUS_CODING LOW SILENT 0.27716 0.27720 0.32608 None None None None None None ADAMTSL1|0.674544897|9.24%

ADAMTSL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs2073876
dbSNP Clinvar 		136412255 8956.77 A C PASS 1/1 205 SYNONYMOUS_CODING LOW SILENT 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%
View 94231510241520_annotated 9 rs2073875
dbSNP Clinvar 		136412236 9914.77 A T PASS 1/1 238 SYNONYMOUS_CODING LOW SILENT 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%
View 94231510241520_annotated 9 rs2073874
dbSNP Clinvar 		136412170 7509.77 C T PASS 1/1 234 SYNONYMOUS_CODING LOW SILENT 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%

AGTPBP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs10114347
dbSNP Clinvar 		88356743 52.77 A G PASS 0/1 9 SYNONYMOUS_CODING LOW SILENT 0.43031 0.43030 None None None None None None AGTPBP1|0.262515075|30.52%

AIF1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs151301044
dbSNP Clinvar 		133993183 286.77 C T PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.00008 None None None None None None AIF1L|0.265763061|30.2%
View 94231510241520_annotated 9 rs2315075
dbSNP Clinvar 		133981629 547.77 T C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26058 0.26060 0.52 0.00 None None None None None None AIF1L|0.265763061|30.2%
View 94231510241520_annotated 9 rs755050284
dbSNP Clinvar 		133978287 1706.77 T C PASS 0/1 159 None None None 0.20 0.02 None None None None None None AIF1L|0.265763061|30.2%
View 94231510241520_annotated 9 rs353510
dbSNP Clinvar 		133996503 2834.77 T A PASS 1/1 84 None None None 0.64537 0.64540 None None None None None None AIF1L|0.265763061|30.2%

AK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs913986
dbSNP Clinvar 		130630639 1257.77 A G PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.99820 0.99820 0.00185 None None None None None None AK1|0.26080806|30.67%

ALAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs1139488
dbSNP Clinvar 		116153900 2097.77 A G PASS 0/1 174 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%
View 94231510241520_annotated 9 rs8177807
dbSNP Clinvar 		116152891 1369.77 A G PASS 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.08906 0.08906 0.08250 None None None None None None ALAD|0.24202063|32.28%
View 94231510241520_annotated 9 rs2228083
dbSNP Clinvar 		116152940 1167.77 G A PASS 0/1 109 SYNONYMOUS_CODING LOW SILENT 0.07867 0.07867 0.08204 None None None None None None ALAD|0.24202063|32.28%

ALDH1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs2073478
dbSNP Clinvar 		38396065 4934.77 G T PASS 1/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39497 0.39500 0.49669 0.00 0.06 None None None None None None ALDH1B1|0.096225216|51.9%
View 94231510241520_annotated 9 rs2228094
dbSNP Clinvar 		38395940 5233.77 T C PASS 1/1 165 SYNONYMOUS_CODING LOW SILENT 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View 94231510241520_annotated 9 rs4878199
dbSNP Clinvar 		38396502 6800.77 G A PASS 1/1 200 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93850 0.93850 0.07812 1.00 0.00 None None None None None None ALDH1B1|0.096225216|51.9%

ANAPC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs11549106
dbSNP Clinvar 		140079522 4133.77 G A PASS 1/1 135 SYNONYMOUS_CODING LOW SILENT 0.18510 0.18510 0.21032 None None None None None None ANAPC2|0.117211115|47.91%
View 94231510241520_annotated 9 rs11549105
dbSNP Clinvar 		140077639 5929.77 G A PASS 1/1 188 SYNONYMOUS_CODING LOW SILENT 0.10204 0.10200 0.18807 None None None None None None ANAPC2|0.117211115|47.91%

ANKRD18A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs1832313
dbSNP Clinvar 		38615698 477.77 C T PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42173 0.42170 0.41984 1.00 0.00 None None None None None None ANKRD18A|0.001240448|94.24%
View 94231510241520_annotated 9 rs779973109
dbSNP Clinvar 		38575646 1450.77 G C PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49 0.00 None None None None None None ANKRD18A|0.001240448|94.24%
View 94231510241520_annotated 9 rs41278339
dbSNP Clinvar 		38575637 1486.77 T C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02216 0.02216 0.03110 0.06 0.98 None None None None None None ANKRD18A|0.001240448|94.24%

ANKRD18B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs41313967
dbSNP Clinvar 		33568763 755.77 C T PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05931 0.05931 0.02 0.14 None None None None None None ANKRD18B|0.001295646|93.93%
View 94231510241520_annotated 9 rs41313776
dbSNP Clinvar 		33548690 4611.77 G A PASS 0/1 306 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06150 0.06150 1.00 0.03 None None None None None None ANKRD18B|0.001295646|93.93%
View 94231510241520_annotated 9 rs3843933
dbSNP Clinvar 		33524684 268.77 G A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75320 0.75320 1.00 0.23 None None None None None None ANKRD18B|0.001295646|93.93%
View 94231510241520_annotated 9 rs7032174
dbSNP Clinvar 		33568687 852.77 T A PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.14317 0.14320 None None None None None None ANKRD18B|0.001295646|93.93%

ANKS6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs6415847
dbSNP Clinvar 		101533220 2661.77 C T PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87520 0.87520 0.03696 0.99 0.00 None None None None None None ANKS6|0.10473239|50.29%

AQP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs2228332
dbSNP Clinvar 		33442952 642.77 G A PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.65875 0.65870 0.35999 None None None None None None AQP3|0.497451011|15.96%
View 94231510241520_annotated 9 rs591810
dbSNP Clinvar 		33447424 2117.77 C G PASS 1/1 62 SYNONYMOUS_CODING LOW SILENT 0.74121 0.74120 0.25759 None None None None None None AQP3|0.497451011|15.96%

AQP7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs74668961
dbSNP Clinvar 		33386465 142.77 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.71 None None None None None None AQP7|0.012677613|78.76%
View 94231510241520_annotated 9 rs78695486
dbSNP Clinvar 		33386469 139.77 C T PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 None None None None None None AQP7|0.012677613|78.76%
View 94231510241520_annotated 9 rs72707424
dbSNP Clinvar 		33386511 615.77 A G PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT None None None None None None AQP7|0.012677613|78.76%
View 94231510241520_annotated 9 rs77962308
dbSNP Clinvar 		33386510 615.77 C T PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.02 None None None None None None AQP7|0.012677613|78.76%
View 94231510241520_annotated 9 rs114937176
dbSNP Clinvar 		33385784 55.77 C G SNP_QC 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.19 None None None None None None AQP7|0.012677613|78.76%
View 94231510241520_annotated 9 rs76908057
dbSNP Clinvar 		33385786 55.77 C G SNP_QC 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.01 None None None None None None AQP7|0.012677613|78.76%
View 94231510241520_annotated 9 rs79172651
dbSNP Clinvar 		33386167 119.77 G C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 1.00 0.00 None None None None None None AQP7|0.012677613|78.76%

ARHGEF39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs2297879
dbSNP Clinvar 		35662251 1217.77 T C PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30571 0.30570 0.25065 0.33 0.00 None None None None None None ARHGEF39|0.293829153|28.14%

ARID3C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs13283357
dbSNP Clinvar 		34627940 172.77 C T PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.18690 0.18690 0.27163 None None None None None None ARID3C|0.102060317|50.79%

ASB6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs3739851
dbSNP Clinvar 		132400480 3291.77 G A PASS 0/1 213 SYNONYMOUS_CODING LOW SILENT 0.46146 0.46150 0.47178 None None None None None None ASB6|0.071590826|57.08%
View 94231510241520_annotated 9 rs2241247
dbSNP Clinvar 		132402908 2704.77 C G PASS 1/1 81 SYNONYMOUS_CODING LOW SILENT 0.93490 0.93490 0.04060 None None None None None None ASB6|0.071590826|57.08%

ASPN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs4744132
dbSNP Clinvar 		95219597 1173.77 G A PASS 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.99101 0.99100 0.01261 None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ASTN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs3761845
dbSNP Clinvar 		119770480 1418.77 C T PASS 0/1 129 SYNONYMOUS_CODING LOW SILENT 0.48982 0.48980 0.43357 None None None None None None ASTN2|0.952118309|2.19%
View 94231510241520_annotated 9 rs7848630
dbSNP Clinvar 		120053776 2178.77 T C PASS 1/1 76 SYNONYMOUS_CODING LOW SILENT 0.96466 0.96470 0.03360 None None None None None None ASTN2|0.952118309|2.19%
View 94231510241520_annotated 9 rs7863560
dbSNP Clinvar 		119495697 988.77 T C PASS 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.99241 0.99240 0.00484 None None None None None None ASTN2|0.952118309|2.19%
View 94231510241520_annotated 9 rs7018569
dbSNP Clinvar 		119199820 532.77 C G PASS 0/1 39 None None None 0.92213 0.92210 0.58 0.00 None None None None None None ASTN2|0.952118309|2.19%

AUH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs146227896
dbSNP Clinvar 		94118202 921.77 T C PASS 0/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00140 0.00140 0.00046 0.01 0.83 None None None None None None AUH|0.043234419|64.75%

BAAT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs1572983
dbSNP Clinvar 		104133628 1002.77 C T PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56290 0.56290 0.36860 0.44 0.04 None None None None None None BAAT|0.006993319|83.49%
View 94231510241520_annotated 9 rs61755096
dbSNP Clinvar 		104125056 2696.77 A G PASS 0/1 261 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01538 0.01538 0.02307 0.60 0.01 None None None None None None BAAT|0.006993319|83.49%

BAG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs1071545
dbSNP Clinvar 		33264540 223.78 C G PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97943 0.97940 0.01767 0.02 0.00 None None None None None None BAG1|0.038149666|66.39%

BARX1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs11793856
dbSNP Clinvar 		96714491 2343.77 C G PASS 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.20387 0.20390 0.25150 None None None None None None BARX1|0.563718474|13.21%

BNC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs3739715
dbSNP Clinvar 		16435714 2128.77 T C PASS 0/1 147 SYNONYMOUS_CODING LOW SILENT 0.07887 0.07887 0.10341 None None None None None None BNC2|0.997136727|0.66%

BRINP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs2274157
dbSNP Clinvar 		122001000 1994.77 G A PASS 1/1 66 SYNONYMOUS_CODING LOW SILENT 0.44209 0.44210 0.35130 None None None None None None BRINP1|0.722842706|7.9%

BSPRY
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs752757
dbSNP Clinvar 		116122954 669.77 A G PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.36442 0.36440 0.29487 None None None None None None BSPRY|0.077695402|55.74%
View 94231510241520_annotated 9 rs3088235
dbSNP Clinvar 		116132334 1455.77 C T PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12580 0.12580 0.14343 0.07 0.34 None None None None None None BSPRY|0.077695402|55.74%

C5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs10985126
dbSNP Clinvar 		123783934 2670.77 T C PASS 0/1 239 SYNONYMOUS_CODING LOW SILENT 0.24121 0.24120 0.24796 None None None None None None C5|0.070590656|57.35%

C8G
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs2071006
dbSNP Clinvar 		139839904 3451.77 T G PASS 1/1 116 SYNONYMOUS_CODING LOW SILENT 0.56769 0.56770 0.45217 None None None None None None C8G|0.005774139|84.88%
View 94231510241520_annotated 9 rs7850844
dbSNP Clinvar 		139840543 4693.77 A G PASS 1/1 150 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None C8G|0.005774139|84.88%

C9orf114
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs7033070
dbSNP Clinvar 		131586374 839.77 G A PASS 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.35982 0.35980 0.33092 None None None None None None C9orf114|0.115068599|48.31%
View 94231510241520_annotated 9 rs2280843
dbSNP Clinvar 		131585069 529.77 A G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60383 0.60380 0.37801 1.00 0.00 None None None None None None C9orf114|0.115068599|48.31%
View 94231510241520_annotated 9 rs6478854
dbSNP Clinvar 		131588888 1897.77 G C PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46146 0.46150 0.42027 0.55 0.00 None None None None None None C9orf114|0.115068599|48.31%
View 94231510241520_annotated 9 rs35677895
dbSNP Clinvar 		131585086 351.77 G C PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.00499 0.00499 0.01312 None None None None None None C9orf114|0.115068599|48.31%

C9orf117
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs497632
dbSNP Clinvar 		130475442 884.77 A C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53674 0.53670 0.41920 0.18 0.01 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%
View 94231510241520_annotated 9 rs522328
dbSNP Clinvar 		130475011 5836.77 T C PASS 0/1 493 SYNONYMOUS_CODING LOW SILENT 0.63738 0.63740 0.33645 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%

C9orf129
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs3122944
dbSNP Clinvar 		96097747 6907.77 C T SNP_QC 1/1 238 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63059 0.63060 0.01 1.00 None None None None None None C9orf129|0.002952224|88.72%

C9orf131
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs615474
dbSNP Clinvar 		35043291 2488.77 G T PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65395 0.65400 0.28779 1.00 0.00 None None None None None None C9orf131|0.007511976|83.04%

C9orf135
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs10780682
dbSNP Clinvar 		72472831 1890.77 C T PASS 0/1 185 SYNONYMOUS_CODING LOW SILENT 0.27057 0.27060 0.26872 None None None None None None C9orf135|0.017718447|75.47%

C9orf147
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs7031191
dbSNP Clinvar 		115249433 1122.77 T C PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.95128 0.95130 None None None None None None C9orf147|0.002191389|90.44%,KIAA1958|0.4868177|16.47%

C9orf152
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs4978888
dbSNP Clinvar 		112963702 3139.77 G A PASS 0/1 300 SYNONYMOUS_CODING LOW SILENT 0.21805 0.21810 0.20460 None None None None None None C9orf152|0.005537676|85.17%
View 94231510241520_annotated 9 rs10120707
dbSNP Clinvar 		112963504 9929.77 A G PASS 1/1 312 SYNONYMOUS_CODING LOW SILENT 0.96905 0.96900 0.07566 None None None None None None C9orf152|0.005537676|85.17%

C9orf156
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs1127703
dbSNP Clinvar 		100675816 556.77 A G PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.17013 0.17010 0.23366 None None None None None None C9orf156|0.045575109|64.03%
View 94231510241520_annotated 9 rs3183927
dbSNP Clinvar 		100684757 1295.77 A G PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26498 0.26500 0.30403 1.00 0.00 None None None None None None C9orf156|0.045575109|64.03%
View 94231510241520_annotated 9 rs3183928
dbSNP Clinvar 		100684719 1554.77 A C PASS 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.26518 0.26520 0.30684 None None None None None None C9orf156|0.045575109|64.03%

C9orf163
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs34376913
dbSNP Clinvar 		139378914 137.77 T C PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15156 0.15160 0.16099 0.00 0.99 None None None None None None C9orf163|0.000432882|98.77%

C9orf169
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs6606566
dbSNP Clinvar 		140120396 452.77 C T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84185 0.84190 0.18342 1.00 0.00 None None None None None None CYSRT1|0.004819797|86.08%

C9orf170
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs76452933
dbSNP Clinvar 		89771569 992.77 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02975 0.02975 0.03445 0.43 0.24 None None None None None None C9orf170|0.000525089|98.3%

C9orf171
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs562350
dbSNP Clinvar 		135374898 2162.77 T C PASS 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.67832 0.67830 0.37537 None None None None None None C9orf171|0.095048175|52.09%

C9orf173
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs28376526
dbSNP Clinvar 		140147152 455.77 C G PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.60982 0.60980 0.31119 None None None None None None C9orf173|0.002917649|88.78%

C9orf24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94231510241520_annotated 9 rs3737242
dbSNP Clinvar 		34379692 4236.77 C T PASS 0/1 296 SYNONYMOUS_CODING LOW SILENT 0.14157 0.14160 0.15800 None None None None None None C9orf24|0.044460803|64.35%